Botkin's research and expertise have benefited people like Amy Oliver, of Millcreek, who rejoices in a once-revolutionary newborn screening program. The program, which Botkin has promoted in Utah, works to prevent mental retardation in babies who are born with an inherited metabolic disorder called phenylketonuria or PKU.
Two of Oliver's children were diagnosed with the disease days after being born, but today Claire, 5, and Seth, 3, are able to play with their peers and live a normal life after early screening detected their condition.
PKU is a rare metabolic disease with the body missing an enzyme. Because of the missing enzyme a child cannot metabolize a component of food, usually an amino acid, which is part of protein. Without early diagnosis and treatment, children with PKU can have brain damage.
But with early diagnosis, the disorder is often treatable with a rigourous, lifelong diet.
"From my perspective the newborn screening saved my babies' life and without treatment my children would be much different," Oliver said. "That kind of medical testing has only benefited my family."
Newborn-screening technology tests for some 30 inherited disorders, Botkin said.
As an associate vice president for research at the University of Utah, Botkin's duties include oversight of the conflict-of-interest policy, boards that review human and animal research, and adherence to biosafety rules involving research with microbes and toxins.
"My particular area is genetics, one of the most active areas of investigation," Botkin, 59, said. "In full-genome [DNA] sequencing, there's a tremendous amount of information about individuals. So, how do you adequately inform them about the benefits and risks [of] this research?"
The cost of determining a person's complete genetic blueprint is about $5,000, Botkin said, but companies are working to make it accessible to most for about $1,000. At that price it might become commonplace for people to obtain their entire DNA sequences, giving them information on what diseases they might be predisposed to or what drugs would work best for them.
But there are ethical dilemmas with such medical technology, which Botkin will be exploring in his new position on the federal committee.
"For some of these [disorders], there are things you can do" such as PKU, Botkin said. "But what if there isn't anything doctors can do? Do you tell patients everything or just what can be treated?"
email@example.comTwitter: @rayutah About Jeffrey Botkin
Botkin is associate vice president for research integrity, professor of pediatrics and chief of medical ethics at the University of Utah.
He has served on previous national panels, including one dealing with the protection of human subjects in research.
He graduated from the medical school at the University of Pittsburgh; served his residency at the University of Colorado in Denver; and earned a master's of public health at Johns Hopkins School of Hygiene and Public Health in Baltimore, Md.
Botkin also was a fellow in Law, Ethics and Health at Johns Hopkins in affiliation with the Kennedy Institute of Ethics at Georgetown.